In our Genetics 101 you may remember that we explained that genes are segments of DNA. Genes provide coded instructions that tell our bodies how to develop, grow, and function.

In many people with r(20) syndrome, their genes appear unchanged;
this makes it hard to diagnose and even more difficult to find treatments.
So what’s going on?

All of your genes and other DNA make up your genome – this is what makes you unique.

What we want scientists to explore is whether there is any consistent change(s) in the  genome of people with r(20) – maybe in the so-called  ‘junk DNA’ – that affects the way their bodies work, causing the similar health problems they experience?